Sperm Seq
30/07/12 12:51 Filed in: GenomeWeb Daily Scan
Submitted by S. Pelech - Kinexus on Fri, 07/20/2012 - 15:44.
The ability to sequence genomes in single haploid cells provides the unique opportunity to examine the actual clustering of specific mutations on the very same protein. Each diploid cell contains two copies of each chromosome (the exception being the X and Y chromosomes in males), and so normally for each gene sequenced, the predicted primary structures of the encoded proteins are really a composite of the mutations distributed on both alleles.
With some 60 million SNP's predicted in the human genome, the severity of deleterious mutations could in principle be strongly influenced by whether multiple mutations reside on the same polypeptide chain of a protein or are differentially distributed among the two copies of the protein that are produced in a cell. It is possible that co-mutations on the same copy of the gene may provide for compensatory changes to minimize their consequences or alternatively may synergize to have even stronger effects. As more DNA sequence data becomes available from single, haploid cell analyses, it will be interesting to observe if functional mutations are indeed clustered.
Link to the original blog post
The ability to sequence genomes in single haploid cells provides the unique opportunity to examine the actual clustering of specific mutations on the very same protein. Each diploid cell contains two copies of each chromosome (the exception being the X and Y chromosomes in males), and so normally for each gene sequenced, the predicted primary structures of the encoded proteins are really a composite of the mutations distributed on both alleles.
With some 60 million SNP's predicted in the human genome, the severity of deleterious mutations could in principle be strongly influenced by whether multiple mutations reside on the same polypeptide chain of a protein or are differentially distributed among the two copies of the protein that are produced in a cell. It is possible that co-mutations on the same copy of the gene may provide for compensatory changes to minimize their consequences or alternatively may synergize to have even stronger effects. As more DNA sequence data becomes available from single, haploid cell analyses, it will be interesting to observe if functional mutations are indeed clustered.
Link to the original blog post